Background
Methods
Subjects
Genotyping
Luciferase assay
EMSA and western blotting
Statistical analysis
Results
Subjects
Genetic association study of the RS1 and RS3 microsatellite polymorphisms
Marker
|
Bi-allelic mode
|
Model
|
Additive
| Dominant | Recessive | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Allele
|
Freq.
|
N
|
Z
|
p
|
N
|
Z
|
p
|
N
|
Z
|
p
| |
RS3 | 326 | 0.062 | 38 | − 0.617 | 0.537 | 37 | − 0.714 | 0.475 |
–
|
–
|
–
|
328 | 0.207 | 96 | 0.183 | 0.855 | 94 | − 0.464 | 0.643 | 21 | 0.612 | 0.107 | |
330 | 0.255 | 104 | − 0.254 | 0.799 | 95 | − 0.981 | 0.327 | 37 | 1.172 | 0.241 | |
332 | 0.202 | 97 | 1.044 | 0.296 | 91 | 1.272 | 0.203 | 18 | − 0.25 | 0.803 | |
334 | 0.186 | 98 | 0.447 | 0.655 | 94 | − 0.621 | 0.535 | 25 | 0.221 | 0.825 | |
rs7294536 | A | 0.807 | 112 | 2.062 | 0.039 | 36 | 2.043 | 0.041 |
36
|
− 2.043
| 0.041 |
G | 0.193 | 112 | − 2.062 | 0.039 | 107 | − 1.386 | 0.166 |
–
|
–
|
–
| |
RS1 | 306 | 0.087 | 59 | 0.367 | 0.714 | 58 | 0.131 | 0.896 | 107 | 1.386 | 0.166 |
310 | 0.414 | 152 | 1.490 | 0.136 | 122 | 2.302 | 0.021 | 86 | − 0.288 | 0.773 | |
314 | 0.221 | 124 | − 1.121 | 0.262 | 119 | − 0.323 | 0.747 | 31 | − 2.090 | 0.037 | |
318 | 0.083 | 62 | − 1.543 | 0.123 | 61 | − 1.440 | 0.150 |
–
|
–
|
–
| |
322 | 0.057 | 39 | 0.000 | 1.000 | 39 | 0.155 | 0.877 |
–
|
–
|
–
| |
326 | 0.130 | 77 | 0.211 | 0.833 | 76 | 0.349 | 0.727 | 13 | − 0.316 | 0.752 | |
rs10877969 | A | 0.911 | 68 | 4.796 | 0.001 | 18 | 2.177 | 0.030 | 67 | 4.573 | < 0.001 |
G | 0.089 | 68 | − 4.796 | 0.001 | 67 | − 4.573 | < 0.001 | 18 | − 2.177 | 0.030 | |
Multi-allelic mode
|
Df
|
χ
2
|
p
|
Df
|
χ
2
|
p
|
Df
|
χ
2
|
p
| ||
RS3 | 5 | 1.598 | 0.902 | 5 | 4.436 | 0.489 | 4 | 4.133 | 0.388 | ||
rs7294536 | 1 | 4.525 | 0.039 | 2 | 5.377 | 0.068 | 2 | 5.377 | 0.068 | ||
RS1 | 6 | 4.517 | 0.607 | 6 | 8.425 | 0.209 | 3 | 4.634 | 0.201 | ||
rs10877969 | 1 | 23.000 | < 0.001 | 2 | 23.206 | < 0.001 | 2 | 23.206 | < 0.001 |
Genetic association study of single nucleotide polymorphisms
Haplotype analyses
Marker
| Biallelic mode | Model | Additive | Dominant | Recessive | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Haplotype | Freq. |
N
|
Z
|
p
|
N
|
Z
|
p
|
N
|
Z
|
p
| |
1-3 | 330-310 | 0.135 | 70 | − 0.753 | 0.452 | 69 | − 0.770 | 0.441 | 11 | − 0.164 | 0.869 |
2-4 | A-A | 0.736 | 133 | 3.826 | < 0.001 | 55 | 3.651 | < 0.001 | 118 | 2.655 | 0.001 |
A-G | 0.064 | 48 | − 3.586 | < 0.001 | 48 | − 3.311 | < 0.001 | – | – | – | |
1-2 | 330-A | 0.235 | 109 | − 0.230 | 0.818 | 99 | − 0.937 | 0.349 | 33 | 1.212 | 0.225 |
2-3 | A-310 | 0.384 | 145 | 1.639 | 0.101 | 116 | 2.112 | 0.035 | 72 | 0.125 | 0.900 |
3-4 | 310-A | 0.367 | 149 | 2.552 | 0.011 | 124 | 2.995 | 0.003 | 72 | 0.564 | 0.573 |
1-2-3 | 330-A-310 | 0.125 | 65 | − 0.891 | 0.373 | 65 | − 1.045 | 0.296 | 10 | 0.174 | 0.862 |
2-3-4 | A-310-A | 0.352 | 142 | 2.505 | 0.012 | 118 | 2.650 | 0.008 | 61 | 0.878 | 0.380 |
Multi-allelic mode | Df | χ2
|
p
| Df | χ2
|
p
| Df | χ2
|
p
| ||
1-3 | 6 | 6.538 | 0.366 | 6 | 5.425 | 0.491 | – | – | – | ||
2-4 | 3 | 24.302 | < 0.001 | 3 | 20.364 | < 0.001 | 2 | 9.650 | 0.008 | ||
1-2 | 6 | 3.859 | 0.696 | 6 | 3.779 | 0.707 | 3 | 6.899 | 0.075 | ||
2-3 | 5 | 5.594 | 0.348 | 5 | 7.474 | 0.188 | 2 | 2.148 | 0.341 | ||
3-4 | 5 | 18.501 | 0.002 | 5 | 18.934 | 0.002 | 2 | 4.027 | 0.134 | ||
1-2-3 | 6 | 7.455 | 0.281 | 6 | 6.676 | 0.352 | – | – | – | ||
2-3-4 | 5 | 19.869 | 0.001 | 5 | 17.603 | 0.003 | 2 | 2.612 | 0.271 |
Quantitative association of the markers
Traits | SCQ | ASDS | SRS | K-CBCL | ADIR-A1 | ADIR-A2 | ADIR-A3 | ADIR-A4 | ADIR-total | VABS | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Marker | Freq. |
N
|
p
|
p
|
p
|
p
|
p
|
p
|
p
|
p
|
p
|
p
|
rs7294536 G | 0.193 | 71 | 0.049 | 0.019 | 0.033 | 0.015 | 0.016 | 0.029 | 0.030 | 0.019 | 0.021 | 0.407 |
rs7294536 A | 0.807 | 71 | 0.049 | 0.019 | 0.033 | 0.015 | 0.016 | 0.029 | 0.030 | 0.019 | 0.021 | 0.407 |
rs10877969 G | 0.089 | 47 | 0.001 | < 0.001 | < 0.001 | < 0.001 | 0.001 | 0.001 | 0.001 | 0.002 | 0.001 | < 0.001 |
rs10877969 A | 0.911 | 47 | 0.001 | < 0.001 | < 0.001 | < 0.001 | 0.001 | 0.001 | 0.001 | 0.002 | 0.001 | < 0.001 |